A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18075325



Internal ID20642366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108881196..108895065hg38UCSC Ensembl
chr2:109497652..109511521hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3813870
hg1913870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344311
Supporting Variants
Samples
Known GenesEDAR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18075325
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer